| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs121918333 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs147976828 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs370245982 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs869025286 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869025287 |
GCCAATAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869025288 |
C>A |
Pathogenic |
Splice acceptor variant |
| rs869025289 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869025291 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869312707 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs869312875 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255407 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886039599 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs886041448 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886041503 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886041624 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886043314 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1029377279 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
| rs1057518262 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1057518424 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1057518705 |
T>G |
Pathogenic |
Splice acceptor variant |
| rs1057520056 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057520775 |
C>A |
Likely-pathogenic |
Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
| rs1057524103 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057524341 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1064793483 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
| rs1064794013 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1064794939 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795068 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795586 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064796113 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1064796543 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, splice acceptor variant |
| rs1064796611 |
ACAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1131691386 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1131691671 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1131691764 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1131691818 |
T>C |
Pathogenic |
Upstream transcript variant, missense variant, initiator codon variant, genic upstream transcript variant |
| rs1135401765 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1135401766 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1135401810 |
C>T |
Pathogenic |
Splice donor variant |
| rs1555225472 |
C>T |
Pathogenic |
Splice acceptor variant |
| rs1555239555 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555239936 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555240359 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555240361 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555240376 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs1555241166 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555243051 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555243059 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555243086 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555243099 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555243400 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555243580 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555243582 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555243607 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555244212 |
GT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555244216 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1555244975 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555245108 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555245254 |
CTGG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555246143 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555246145 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555246154 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555246952 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555247469 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1555247672 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555247699 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555247800 |
CTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555247805 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555247853 |
CCC>TGTTCGAG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555247936 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555248020 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555248025 |
->GTTG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555249561 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555249664 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1555250044 |
CA>AT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1565981137 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1565982697 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1565985681 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1565987758 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1565995034 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1565995054 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1565995146 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1565997261 |
TAG>A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1566005476 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1566010195 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1566011496 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1592890905 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1592891007 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1592915896 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1592919048 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1592923871 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1592939069 |
G>C |
Likely-pathogenic |
Intron variant |
| rs1592940794 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1592941857 |
GAGGCCTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1592953902 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593039493 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593238375 |
C>- |
Pathogenic |
Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant |